Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.

ABSTRACT:

Purpose

Non-aneuploid recurrent pregnancy loss (RPL) affects approximately 100,000 pregnancies worldwide annually. Exome sequencing (ES) may help uncover the genetic etiology of RPL and, more generally, pregnancy loss as a whole. Previous studies have attempted to predict the genes that, when disrupted, may cause human embryonic lethality. However, predictions by these early studies rarely point to the same genes. Case reports of pathogenic variants identified in RPL cases offer another clue. We evaluated known genetic etiologies of RPL identified by ES.

Methods

We gathered primary research articles from PubMed and Embase involving case reports of RPL reporting variants identified by ES. Two authors independently reviewed all articles for eligibility and extracted data based

SUBMITTER: Robbins SM 

PROVIDER: S-EPMC6707996 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature